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Aicardi-Goutieres syndrome 1, autosomal dominant

MedGen UID:
461665
Concept ID:
C3150315
Disease or Syndrome
Synonym: AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
 
OMIM®: 225750; 606609

Recent clinical studies

Etiology

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T
Rheumatology (Oxford) 2014 Mar;53(3):448-58. Epub 2013 Dec 3 doi: 10.1093/rheumatology/ket372. PMID: 24300241
Haaxma CA, Crow YJ, van Steensel MA, Lammens MM, Rice GI, Verbeek MM, Willemsen MA
Am J Med Genet A 2010 Oct;152A(10):2612-7. doi: 10.1002/ajmg.a.33620. PMID: 20799324

Diagnosis

Markovic I, Jocic-Jakubi B, Milenkovic Z
Neuroradiol J 2023 Dec;36(6):740-745. Epub 2023 Feb 1 doi: 10.1177/19714009231154677. PMID: 36722173Free PMC Article
Jones HF, Stoll M, Ho G, O'Neill D, Han VX, Paget S, Stewart K, Lewis J, Kothur K, Troedson C, Crow YJ, Dale RC, Mohammad SS
Brain Dev 2022 Feb;44(2):153-160. Epub 2021 Oct 24 doi: 10.1016/j.braindev.2021.10.001. PMID: 34702576
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T
Rheumatology (Oxford) 2014 Mar;53(3):448-58. Epub 2013 Dec 3 doi: 10.1093/rheumatology/ket372. PMID: 24300241
Fazzi E, Cattalini M, Orcesi S, Tincani A, Andreoli L, Balottin U, De Simone M, Fredi M, Facchetti F, Galli J, Giliani S, Izzotti A, Meini A, Olivieri I, Plebani A
Autoimmun Rev 2013 Feb;12(4):506-9. Epub 2012 Aug 24 doi: 10.1016/j.autrev.2012.08.012. PMID: 22940555

Therapy

Zhang C, Yu Z, Gao S, Ma M, Gou L, Wang C, Wang L, Li J, Zhong L, Zhou Y, Wang W, Song H
Pediatr Rheumatol Online J 2023 Oct 17;21(1):124. doi: 10.1186/s12969-023-00881-0. PMID: 37848905Free PMC Article

Prognosis

Jones HF, Stoll M, Ho G, O'Neill D, Han VX, Paget S, Stewart K, Lewis J, Kothur K, Troedson C, Crow YJ, Dale RC, Mohammad SS
Brain Dev 2022 Feb;44(2):153-160. Epub 2021 Oct 24 doi: 10.1016/j.braindev.2021.10.001. PMID: 34702576
Fazzi E, Cattalini M, Orcesi S, Tincani A, Andreoli L, Balottin U, De Simone M, Fredi M, Facchetti F, Galli J, Giliani S, Izzotti A, Meini A, Olivieri I, Plebani A
Autoimmun Rev 2013 Feb;12(4):506-9. Epub 2012 Aug 24 doi: 10.1016/j.autrev.2012.08.012. PMID: 22940555

Clinical prediction guides

Zhang C, Yu Z, Gao S, Ma M, Gou L, Wang C, Wang L, Li J, Zhong L, Zhou Y, Wang W, Song H
Pediatr Rheumatol Online J 2023 Oct 17;21(1):124. doi: 10.1186/s12969-023-00881-0. PMID: 37848905Free PMC Article
Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ
Neuropediatrics 2017 Jun;48(3):166-184. Epub 2017 Apr 10 doi: 10.1055/s-0037-1601449. PMID: 28561207Free PMC Article
Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T
Rheumatology (Oxford) 2014 Mar;53(3):448-58. Epub 2013 Dec 3 doi: 10.1093/rheumatology/ket372. PMID: 24300241
Livingston JH, Lin JP, Dale RC, Gill D, Brogan P, Munnich A, Kurian MA, Gonzalez-Martinez V, De Goede CG, Falconer A, Forte G, Jenkinson EM, Kasher PR, Szynkiewicz M, Rice GI, Crow YJ
J Med Genet 2014 Feb;51(2):76-82. Epub 2013 Nov 21 doi: 10.1136/jmedgenet-2013-102038. PMID: 24262145

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